ENST00000531848.1 HPS5

Information
Transcript ID
ENST00000531848.1
Genome
hg38
Position
chr11:18,296,162-18,322,198
Strand
-
CDS length
1,203
Amino acid length
401
Gene symbol
HPS5
Gene type
protein-coding
Gene description
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Gene Entrez Gene ID
11234
Variants

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Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
11 18,296,162 18,296,984
10 18,297,559 18,297,717
9 18,298,792 18,298,970
8 18,300,828 18,300,916
7 18,305,422 18,305,493
6 18,306,135 18,306,347
5 18,308,946 18,309,079
4 18,310,741 18,310,933
3 18,311,387 18,311,451
2 18,311,914 18,312,024
1 18,322,077 18,322,198
CDS
Exon number Type Start Stop
11 CDS 18,296,763 18,296,984
10 CDS 18,297,559 18,297,717
9 CDS 18,298,792 18,298,970
8 CDS 18,300,828 18,300,916
7 CDS 18,305,422 18,305,493
6 CDS 18,306,135 18,306,347
5 CDS 18,308,946 18,309,079
4 CDS 18,310,741 18,310,875
Other genome
Genome Chromosome Start End Links
hg19 chr11 18,317,709 18,343,745 Link
CDS sequence
ATGTATGTGTCTTCAGAACACAAAGGCCGAAGAGTCACAGCTCTCTGCTGGGATACAGCTATTCTTAGAGTTTTTGTAGGTGATCATGCTGGGAAGGTTTCTGCTATCAAACTCAATACTTCTAAACAAGCAAAGGCAGCTGCTGCTTTTGTGATGTTTCCTGTTCAGACAATCACAACTGTTGACTCCTGTGTTGTACAGTTAGATTATTTGGATGGAAGGCTACTTATATCTTCACTTACTCGATCCTTCTTGTGTGACACTGAGAGAGAAAAGTTTTGGAAAATTGGAAACAAGGAAAGAGATGGAGAATATGGAGCTTGTTTCTTTCCTGGAAGATGTTCTGGGGGCCAGCAACCTCTGATATATTGTGCTCGCCCAGGCTCTAGGATGTGGGAAGTGAACTTTGATGGAGAAGTTATAAGTACACATCAGTTCAAGAAACTCCTCTCGTTGCCACCTCTCCCTGTGATTACTCTCAGATCAGAACCTCAGTATGATCATACAGCTGGATCCTCCCAGTCTTTGTCTTTCCCCAAACTCTTACATCTTAGTGAGCATTGTGTGCTGACTTGGACAGAAAGAGGAATTTATATTTTCATTCCTCAGAATGTTCAAGTTCTTCTTTGGAGTGAAGTCAAAGATATTCAGGATGTGGCTGTCTGTAGGAATGAATTGTTCTGTTTGCACCTAAATGGGAAAGTCTCACATCTCTCCCTGATATCTGTGGAGCGCTGTGTGGAACGCCTGCTAAGAAGAGGCCTATGGAACTTGGCTGCTCGTACATGCTGTCTTTTCCAAAATTCTGTCATTGCCAGCAGAGCAAGAAAAACTTTGACTGCAGATAAATTGGAGCATTTGAAATCTCAGCTGGACCATGGCACCTACAATGATCTAATTTCTCAACTGGAAGAATTGATCTTAAAATTTGAACCTTTGGATTCAGCTTGTAGCAGTAGAAGAAGCTCCATTTCATCACATGAAAGTTTCAGCATCTTGGACTCTGGTATTTATCGTATCATTAGTAGTAGAAGAGGCAGTCAGTCAGATGAAGACTCTTGCTCCCTTCACAGCCAAACCCTCTCAGAAGATGAGAGATTTAAAGAATTCACCTCACAGCAGGAAGAGGACCTGCCAGATCAGTGTTGTGGCTCACACGGAAATGAAGGTGATGAATGTGTCTGTTGTTGGTTCCTGATGTGA
Amino sequence
MYVSSEHKGRRVTALCWDTAILRVFVGDHAGKVSAIKLNTSKQAKAAAAFVMFPVQTITTVDSCVVQLDYLDGRLLISSLTRSFLCDTEREKFWKIGNKERDGEYGACFFPGRCSGGQQPLIYCARPGSRMWEVNFDGEVISTHQFKKLLSLPPLPVITLRSEPQYDHTAGSSQSLSFPKLLHLSEHCVLTWTERGIYIFIPQNVQVLLWSEVKDIQDVAVCRNELFCLHLNGKVSHLSLISVERCVERLLRRGLWNLAARTCCLFQNSVIASRARKTLTADKLEHLKSQLDHGTYNDLISQLEELILKFEPLDSACSSRRSSISSHESFSILDSGIYRIISSRRGSQSDEDSCSLHSQTLSEDERFKEFTSQQEEDLPDQCCGSHGNEGDECVCCWFLM*